Linked Data
ClinVar Variation Id:
133658
dbSNP Id:
rs587778088
gnomAD v3:
X-77682495-C-A
gnomAD v4:
X-77682495-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682495C>A , CM000685.2:g.77682495C>A | GRCh38 |
| NC_000023.10:g.76937987C>A , CM000685.1:g.76937987C>A | GRCh37 |
| NC_000023.9:g.76824643C>A | NCBI36 |
| NG_008838.2:g.108727G>T | |
| NG_008838.3:g.108775G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2761G>T MANE Select | ENSP00000362441.4:p.Val921Phe | |
| ENST00000373344.9:c.2761G>T | ENSP00000362441.4:p.Val921Phe | |
| ENST00000395603.7:c.2647G>T | ENSP00000378967.3:p.Val883Phe | |
| ENST00000480283.5:c.*2389G>T | ENSP00000480196.1:n.*2389G>T | |
| ENST00000624032.3:c.2674G>T | ENSP00000485253.1:p.Val892Phe | |
| ENST00000624166.3:c.2557G>T | ENSP00000485103.1:p.Val853Phe | |
| NM_000489.4:c.2761G>T | NP_000480.3:p.Val921Phe | |
| NM_138270.3:c.2647G>T | NP_612114.2:p.Val883Phe | |
| XM_005262153.3:c.2758G>T | XP_005262210.2:p.Val920Phe | |
| XM_005262154.3:c.2674G>T | XP_005262211.2:p.Val892Phe | |
| XM_005262155.3:c.2644G>T | XP_005262212.2:p.Val882Phe | |
| XM_005262156.3:c.2596G>T | XP_005262213.2:p.Val866Phe | |
| XM_005262157.3:c.2557G>T | XP_005262214.2:p.Val853Phe | |
| XM_006724666.2:c.2644G>T | XP_006724729.1:p.Val882Phe | |
| XM_006724667.2:c.2482G>T | XP_006724730.1:p.Val828Phe | |
| XM_006724668.2:c.2761G>T | XP_006724731.1:p.Val921Phe | |
| XR_938400.1:n.3029G>T | ||
| NM_000489.5:c.2761G>T | NP_000480.3:p.Val921Phe | |
| XM_005262153.5:c.2758G>T | XP_005262210.2:p.Val920Phe | |
| XM_005262154.5:c.2674G>T | XP_005262211.2:p.Val892Phe | |
| XM_005262155.4:c.2644G>T | XP_005262212.2:p.Val882Phe | |
| XM_005262156.4:c.2596G>T | XP_005262213.2:p.Val866Phe | |
| XM_005262157.5:c.2557G>T | XP_005262214.2:p.Val853Phe | |
| XM_006724666.4:c.2644G>T | XP_006724729.1:p.Val882Phe | |
| XM_006724667.3:c.2482G>T | XP_006724730.1:p.Val828Phe | |
| XM_006724668.3:c.2761G>T | XP_006724731.1:p.Val921Phe | |
| XM_017029601.2:c.2671G>T | XP_016885090.1:p.Val891Phe | |
| XM_017029602.1:c.2641G>T | XP_016885091.1:p.Val881Phe | |
| XM_017029603.1:c.2593G>T | XP_016885092.1:p.Val865Phe | |
| XM_017029604.2:c.2560G>T | XP_016885093.1:p.Val854Phe | |
| XM_017029605.1:c.2557G>T | XP_016885094.1:p.Val853Phe | |
| XM_017029606.2:c.2530G>T | XP_016885095.1:p.Val844Phe | |
| XM_017029607.2:c.2527G>T | XP_016885096.1:p.Val843Phe | |
| XM_017029608.2:c.2479G>T | XP_016885097.1:p.Val827Phe | |
| XM_017029609.1:c.2443G>T | XP_016885098.1:p.Val815Phe | |
| XM_017029610.1:c.2440G>T | XP_016885099.1:p.Val814Phe | |
| XM_017029611.1:c.2395G>T | XP_016885100.1:p.Val799Phe | |
| XR_001755700.2:n.2986G>T | ||
| NM_138270.4:c.2647G>T | NP_612114.2:p.Val883Phe | |
| NM_000489.6:c.2761G>T MANE Select | NP_000480.3:p.Val921Phe | |
| NM_138270.5:c.2647G>T | NP_612114.2:p.Val883Phe |